Phakomatoses. Part I: Neurofibromatosis type 1: Common and uncommon neuroimaging findings

Scott H. Faro, Sean N. Higginson, B. S.Robert Koenigsberg, Cheryce M. Poon, John P. Swidryk, Feroze B. Mohammed, Robert A. Zimmerman, Cheng Y. Chen

Research output: Contribution to journalArticlepeer-review

Abstract

Neurofibromatosis type I (NF-1) belongs to a family of diseases named phakomatoses, which are characterized by congenital malformations of ectodermal structures. Neurofibromatosis type I affects 1 in 3000 people, and has a diverse clinical presentation as well as an array of imaging findings. In this article the authors review the various neuroimaging findings present in NF-1, including abnormalities of the parenchyma, meninges, vessels, and associated neoplasms.

Original languageEnglish (US)
Pages (from-to)138-146
Number of pages9
JournalJournal of Neuroimaging
Volume10
Issue number3
DOIs
StatePublished - 2000

Keywords

  • Astrocytoma
  • Dysplasia
  • Glioma
  • Neurofibroma
  • Neurofibromatosis- 1
  • Phakomatoses

ASJC Scopus subject areas

  • Radiology Nuclear Medicine and imaging
  • Clinical Neurology

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